Journal article
Back to the future: Proceedings from the 2010 NF Conference
SM Huson, MT Acosta, AJ Belzberg, A Bernards, J Chernoff, K Cichowski, D Gareth Evans, RE Ferner, M Giovannini, BR Korf, R Listernick, KN North, RJ Packer, LF Parada, J Peltonen, V Ramesh, KM Reilly, JW Risner, EK Schorry, M Upadhyaya Show all
American Journal of Medical Genetics Part A | Published : 2011
DOI: 10.1002/ajmg.a.33804
Abstract
The neurofibromatoses (NF) encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect 100,000 Americans; over 2 million persons worldwide; and are caused by mutation of tumor suppressor genes. Individuals with NF1 in particular may develop tumors anywhere in the nervous system; additional manifestations can include learning disabilities, bone dysplasia, cardiovascular defects, unmanageable pain, and physical disfigurement. Ultimately, the NFs can cause blindness, deafness, severe morbidity, and increased mortality and NF1 includes a risk of malignant cancer. Today there is no treatment for the NFs (other than symptomatic); however, research efforts to understand these genetic ..
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Awarded by National Cancer Institute
Funding Acknowledgements
Grant sponsor: National Institutes of Health; Grant number: 1R13NS070505-01.